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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2622478296
Gene: PDX1
HGNC
NCBI
Linked Data
gnomAD v4:
13-27924349-TCAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.27924353_27924355del , CM000675.2:g.27924353_27924355del
GRCh38
NC_000013.10:g.28498490_28498492del , CM000675.1:g.28498490_28498492del
GRCh37
NC_000013.9:g.27396490_27396492del
NCBI36
NG_008183.1:g.9323_9325del
Transcript Alleles
HGVS
Amino-acid change
ENST00000381033.5:c.504_506del
MANE Select
ENSP00000370421.4:p.Asn168del
ENST00000381033.4:c.504_506del
ENSP00000370421.4:p.Asn168del
NM_000209.3:c.504_506del
NP_000200.1:p.Asn168del
NM_000209.4:c.504_506del
MANE Select
NP_000200.1:p.Asn168del
Search 100 bp 5'
Search 100 bp 3'